Variant report

Variant	rs7106099
Chromosome Location	chr11:18408963-18408964
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:18406695..18409198-chr11:18428247..18430111,2	K562	blood:

Extended variants
information (count: 47 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10741744	0.93[ASN][1000 genomes]
rs10766473	0.86[JPT][hapmap]
rs10766475	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10832927	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10832929	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10832930	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10832931	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10832932	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10832933	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11024636	0.95[JPT][hapmap]
rs1830426	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1881716	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1969562	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1969563	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2249631	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2403278	0.95[JPT][hapmap]
rs2403279	0.91[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2721123	0.86[AMR][1000 genomes]
rs3758680	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3758681	0.95[JPT][hapmap]
rs3758682	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3758683	0.95[JPT][hapmap]
rs3781641	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3809096	0.86[CHB][hapmap];0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs3809097	0.89[ASN][1000 genomes]
rs4274186	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4820	0.81[AMR][1000 genomes]
rs5030621	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6486421	0.95[ASN][1000 genomes]
rs6486425	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7101840	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7111748	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7112492	0.95[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs7117399	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7120485	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7121244	1.00[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7128549	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7129689	0.95[JPT][hapmap]
rs7130990	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7947664	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7951953	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949248	chr11:17791822-18692687	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv933836	chr11:18300254-18440933	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
3	nsv553633	chr11:18311701-19058451	Weak transcription Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
4	nsv1047049	chr11:18359702-18520008	Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
5	nsv540955	chr11:18359702-18520008	Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
6	esv1811183	chr11:18389643-18432437	Enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7106099	LDHC	cis	Artery Tibial	GTEx
rs7106099	LDHC	cis	Thyroid	GTEx
rs7106099	LDHC	cis	Nerve Tibial	GTEx

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:18405800-18415600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr11:18406000-18409400	Enhancers	Primary T cells fromperipheralblood	blood
3	chr11:18406200-18409000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
4	chr11:18406200-18409200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
5	chr11:18406200-18409200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
6	chr11:18406200-18409200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr11:18406200-18409200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr11:18406400-18409200	Enhancers	NHDF-Ad	bronchial
9	chr11:18406400-18409400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr11:18406400-18409400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr11:18406400-18410800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr11:18406400-18413400	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr11:18406400-18413400	Weak transcription	K562	blood
14	chr11:18406400-18415000	Weak transcription	Lung	lung
15	chr11:18406400-18415200	Weak transcription	HSMM	muscle
16	chr11:18406400-18415400	Weak transcription	Right Ventricle	heart
17	chr11:18406600-18409200	Enhancers	Hela-S3	cervix
18	chr11:18406600-18409400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr11:18406600-18413400	Weak transcription	Primary B cells from cord blood	blood
20	chr11:18406600-18415200	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr11:18406600-18415400	Weak transcription	Thymus	Thymus
22	chr11:18407000-18412800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr11:18407000-18415400	Weak transcription	Fetal Intestine Large	intestine
24	chr11:18407200-18412800	Weak transcription	Primary hematopoietic stem cells	blood
25	chr11:18407200-18413000	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr11:18407200-18415400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr11:18407200-18415400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr11:18407200-18415400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr11:18407200-18415400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr11:18407200-18416000	Weak transcription	Gastric	stomach
31	chr11:18407800-18409000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr11:18407800-18409400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr11:18407800-18415400	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr11:18408000-18413800	Weak transcription	Primary T helper cells fromperipheralblood	blood
35	chr11:18408000-18414000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr11:18408200-18409000	Enhancers	Fetal Stomach	stomach
37	chr11:18408200-18414600	Enhancers	A549	lung
38	chr11:18408400-18409400	Weak transcription	Fetal Muscle Leg	muscle
39	chr11:18408600-18409000	Weak transcription	Placenta	Placenta
40	chr11:18408600-18409400	Enhancers	Primary T cells from cord blood	blood
41	chr11:18408600-18409600	Enhancers	Fetal Thymus	thymus
42	chr11:18408600-18409600	Enhancers	HepG2	liver
43	chr11:18408600-18411200	Enhancers	Primary neutrophils fromperipheralblood	blood
44	chr11:18408800-18409000	Enhancers	Fetal Muscle Trunk	muscle
45	chr11:18408800-18409600	Enhancers	Primary T helper cells PMA-I stimulated	--
46	chr11:18408800-18413000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr11:18408800-18415400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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